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論文リスト

doi title author source_title year
4255 10.1016/j.cell.2018.12.019 Characterizing The Major Structural Variant Alleles Of The Human Genome Audano, Peter A.; Sulovari, Arvis; Graves-Lindsay, Tina A.; Cantsilieris, Stuart; Sorensen, Melanie; Welch, Annemarie E.; Dougherty, Max L.; Nelson, Bradley J.; Shah, Ankeeta; Dutcher, Susan K.; Warren, Wesley C.; Magrini, Vincent; Mcgrath, Sean D.; Li, Yang I.; Wilson, Richard K.; Eichler, Evan E. Cell 2019
12582 10.1038/nbt.4227 Variation Graph Toolkit Improves Read Mapping By Representing Genetic Variation In The Reference Garrison, Erik; Siren, Jouni; Novak, Adam M, 0000-0001-5828-047X; Hickey, Glenn; Eizenga, Jordan M; Dawson, Eric T; Jones, William; Garg, Shilpa; Markello, Charles; Lin, Michael F; Paten, Benedict; Durbin, Richard, 0000-0002-9130-1006 Nature Biotechnology 2018
12903 10.1038/s41467-018-08148-z Multi-Platform Discovery Of Haplotype-Resolved Structural Variation In Human Genomes Chaisson, Mark J. P.; Sanders, Ashley D.; Zhao, Xuefang, 0000-0003-4036-9577; Malhotra, Ankit; Porubsky, David; Rausch, Tobias, 0000-0001-5773-5620; Gardner, Eugene J., 0000-0001-9671-1533; Rodriguez, Oscar L.; Guo, Li; Collins, Ryan L.; Fan, Xian; Wen, Jia; Handsaker, Robert E., 0000-0002-3128-3547; Fairley, Susan; Kronenberg, Zev N.; Kong, Xiangmeng; Hormozdiari, Fereydoun; Lee, Dillon; Wenger, Aaron M., 0000-0003-1183-0432; Hastie, Alex R.; Antaki, Danny, 0000-0003-0381-7801; Anantharaman, Thomas; Audano, Peter A., 0000-0002-5187-0415; Brand, Harrison; Cantsilieris, Stuart; Cao, Han; Cerveira, Eliza; Chen, Chong; Chen, Xintong, 0000-0002-2536-165X; Chin, Chen-Shan, 0000-0003-4394-2455; Chong, Zechen, 0000-0001-5750-1808; Chuang, Nelson T.; Lambert, Christine C.; Church, Deanna M., 0000-0003-4264-1853; Clarke, Laura, 0000-0002-5989-6898; Farrell, Andrew; Flores, Joey; Galeev, Timur; Gorkin, David U., 0000-0003-4944-4107; Gujral, Madhusudan; Guryev, Victor; Heaton, William Haynes; Korlach, Jonas, 0000-0003-3047-4250; Kumar, Sushant; Kwon, Jee Young; Lam, Ernest T.; Lee, Jong Eun; Lee, Joyce, 0000-0002-3492-1102; Lee, Wan-Ping; Lee, Sau Peng; Li, Shantao; Marks, Patrick; Viaud-Martinez, Karine; Meiers, Sascha; Munson, Katherine M., 0000-0001-8413-6498; Navarro, Fabio C. P., 0000-0002-5640-9070; Nelson, Bradley J.; Nodzak, Conor; Noor, Amina; Kyriazopoulou-Panagiotopoulou, Sofia; Pang, Andy W. C.; Qiu, Yunjiang, 0000-0002-0539-9714; Rosanio, Gabriel; Ryan, Mallory; Stutz, Adrian; Spierings, Diana C. J.; Ward, Alistair; Welch, Annemarie E.; Xiao, Ming; Xu, Wei; Zhang, Chengsheng; Zhu, Qihui; Zheng-Bradley, Xiangqun; Lowy, Ernesto, 0000-0001-9312-1159; Yakneen, Sergei, 0000-0001-7827-9839; Mccarroll, Steven; Jun, Goo; Ding, Li; Koh, Chong Lek; Ren, Bing, 0000-0002-5435-1127; Flicek, Paul, 0000-0002-3897-7955; Chen, Ken, 0000-0003-4013-5279; Gerstein, Mark B.; Kwok, Pui-Yan; Lansdorp, Peter M.; Marth, Gabor T.; Sebat, Jonathan, 0000-0002-9087-526X; Shi, Xinghua, 0000-0003-4662-3177; Bashir, Ali; Ye, Kai; Devine, Scott E.; Talkowski, Michael E.; Mills, Ryan E.; Marschall, Tobias, 0000-0002-9376-1030; Korbel, Jan O., 0000-0002-2798-3794; Eichler, Evan E., 0000-0002-8246-4014; Lee, Charles Nature Communications 2019
12980 10.1038/s41467-019-08992-7 Genome Maps Across 26 Human Populations Reveal Population-Specific Patterns Of Structural Variation Levy-Sakin, Michal; Pastor, Steven; Mostovoy, Yulia; Li, Le, 0000-0001-8710-8740; Leung, Alden K. Y.; Mccaffrey, Jennifer; Young, Eleanor; Lam, Ernest T.; Hastie, Alex R.; Wong, Karen H. Y., 0000-0002-1648-1414; Chung, Claire Y. L., 0000-0002-9947-7591; Ma, Walfred; Sibert, Justin; Rajagopalan, Ramakrishnan; Jin, Nana; Chow, Eugene Y. C.; Chu, Catherine; Poon, Annie; Lin, Chin; Naguib, Ahmed; Wang, Wei-Ping; Cao, Han; Chan, Ting-Fung, 0000-0002-0489-3884; Yip, Kevin Y., 0000-0001-5516-9944; Xiao, Ming; Kwok, Pui-Yan, 0000-0002-5087-3059 Nature Communications 2019
13110 10.1038/s41467-019-11146-4 Comprehensive Evaluation And Characterisation Of Short Read General-Purpose Structural Variant Calling Software Cameron, Daniel L., 0000-0002-0951-7116; Di Stefano, Leon, 0000-0001-8366-9882; Papenfuss, Anthony T., 0000-0002-1102-8506 Nature Communications 2019
13969 10.1038/s41576-019-0180-9 Structural Variation In The Sequencing Era Ho, Steve S., 0000-0002-6685-774X; Urban, Alexander E.; Mills, Ryan E., 0000-0003-3425-6998 Nature Reviews Genetics 2019
13970 10.1038/s41576-020-0210-7 Pan-Genomics In The Human Genome Era Sherman, Rachel M., 0000-0003-1750-8428; Salzberg, Steven L., 0000-0002-8859-7432 Nature Reviews Genetics 2020
14394 10.1038/s41586-020-2287-8 A Structural Variation Reference For Medical And Population Genetics Nature 2020
14406 10.1038/s41586-020-2371-0 Mapping And Characterization Of Structural Variation In 17,795 Human Genomes Abel, Haley J.; Larson, David E., 0000-0001-7934-5906; Regier, Allison A.; Chiang, Colby, 0000-0002-4113-6065; Das, Indraniel; Kanchi, Krishna L.; Layer, Ryan M., 0000-0002-5823-3232; Neale, Benjamin M., 0000-0003-1513-6077; Salerno, William J.; Reeves, Catherine, 0000-0002-9942-8909; Buyske, Steven, 0000-0001-8539-5416; Matise, Tara C., 0000-0002-7147-492X; Muzny, Donna M.; Zody, Michael C.; Lander, Eric S.; Dutcher, Susan K., 0000-0001-5689-5753; Stitziel, Nathan O.; Hall, Ira M., 0000-0003-4442-6655 Nature 2020
14546 10.1038/s41587-020-0538-8 A Robust Benchmark For Detection Of Germline Large Deletions And Insertions Zook, Justin M., 0000-0003-2309-8402; Hansen, Nancy F., 0000-0002-0950-0699; Olson, Nathan D., 0000-0003-2585-3037; Chapman, Lesley; Mullikin, James C., 0000-0003-0825-3750; Xiao, Chunlin; Sherry, Stephen; Koren, Sergey, 0000-0002-1472-8962; Phillippy, Adam M., 0000-0003-2983-8934; Boutros, Paul C., 0000-0003-0553-7520; Sahraeian, Sayed Mohammad E.; Huang, Vincent, 0000-0002-6504-179X; Rouette, Alexandre; Alexander, Noah; Mason, Christopher E., 0000-0002-1850-1642; Hajirasouliha, Iman; Ricketts, Camir; Lee, Joyce, 0000-0002-3492-1102; Tearle, Rick; Fiddes, Ian T.; Barrio, Alvaro Martinez, 0000-0001-5064-2093; Wala, Jeremiah; Carroll, Andrew; Ghaffari, Noushin; Rodriguez, Oscar L.; Bashir, Ali; Jackman, Shaun; Farrell, John J.; Wenger, Aaron M.; Alkan, Can, 0000-0002-5443-0706; Soylev, Arda, 0000-0003-2198-1920; Schatz, Michael C.; Garg, Shilpa; Church, George, 0000-0003-3535-2076; Marschall, Tobias, 0000-0002-9376-1030; Chen, Ken, 0000-0003-4013-5279; Fan, Xian; English, Adam C.; Rosenfeld, Jeffrey A., 0000-0002-8750-2841; Zhou, Weichen, 0000-0003-4755-1072; Mills, Ryan E.; Sage, Jay M.; Davis, Jennifer R.; Kaiser, Michael D.; Oliver, John S.; Catalano, Anthony P.; Chaisson, Mark J. P.; Spies, Noah; Sedlazeck, Fritz J., 0000-0001-6040-2691; Salit, Marc Nature Biotechnology 2020
14567 10.1038/s41588-018-0273-y Assembly Of A Pan-Genome From Deep Sequencing Of 910 Humans Of African Descent Sherman, Rachel M., 0000-0003-1750-8428; Forman, Juliet; Antonescu, Valentin; Puiu, Daniela; Daya, Michelle; Rafaels, Nicholas; Boorgula, Meher Preethi; Chavan, Sameer; Vergara, Candelaria, 0000-0003-3297-8057; Ortega, Victor E.; Levin, Albert M.; Eng, Celeste; Yazdanbakhsh, Maria, 0000-0002-7666-1441; Wilson, James G.; Marrugo, Javier; Lange, Leslie A.; Williams, L. Keoki; Watson, Harold; Ware, Lorraine B.; Olopade, Christopher O.; Olopade, Olufunmilayo; Oliveira, Ricardo R.; Ober, Carole; Nicolae, Dan L.; Meyers, Deborah A.; Mayorga, Alvaro; Knight-Madden, Jennifer; Hartert, Tina; Hansel, Nadia N.; Foreman, Marilyn G.; Ford, Jean G.; Faruque, Mezbah U.; Dunston, Georgia M.; Caraballo, Luis; Burchard, Esteban G.; Bleecker, Eugene R.; Araujo, Maria I.; Herrera-Paz, Edwin F., 0000-0001-9437-6620; Campbell, Monica; Foster, Cassandra; Taub, Margaret A.; Beaty, Terri H., 0000-0002-7644-1705; Ruczinski, Ingo; Mathias, Rasika A.; Barnes, Kathleen C.; Salzberg, Steven L., 0000-0002-8859-7432 Nature Genetics 2018
14571 10.1038/s41588-018-0316-4 Fast And Accurate Genomic Analyses Using Genome Graphs Rakocevic, Goran, 0000-0002-3411-0764; Semenyuk, Vladimir, 0000-0002-7461-6153; Lee, Wan-Ping, 0000-0002-5305-1181; Spencer, James; Browning, John, 0000-0003-2997-8734; Johnson, Ivan J.; Arsenijevic, Vladan; Nadj, Jelena; Ghose, Kaushik, 0000-0003-2933-1260; Suciu, Maria C.; Ji, Sun-Gou; Demir, Gulfem; Li, Lizao; Topta<U+015F>, Berke C.; Dolgoborodov, Alexey; Pollex, Bjorn; Spulber, Iosif; Glotova, Irina; Komar, Peter; Stachyra, Andrew L.; Li, Yilong; Popovic, Milos; Kallberg, Morten; Jain, Amit; Kural, Deniz, 0000-0002-8085-0771 Nature Genetics 2019
17012 10.1093/bioinformatics/btz041 Svim: Structural Variant Identification Using Mapped Long Reads Heller, David, 0000-0001-8346-9565; Vingron, Martin Bioinformatics 2019
17497 10.1101/gr.244939.118 Structural Variants Identified By Oxford Nanopore Promethion Sequencing Of The Human Genome De Coster, Wouter, 0000-0002-5248-8197; De Rijk, Peter, 0000-0001-8558-9288; De Roeck, Arne, 0000-0001-5155-0289; De Pooter, Tim; D’Hert, Svenn; Strazisar, Mojca; Sleegers, Kristel, 0000-0002-0283-2332; Van Broeckhoven, Christine, 0000-0003-0183-7665 Genome Research 2019